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CHARCOT-MARIE-TOOTH DISEASE By: Lindsay Arden CHARCOT-MARIE-TOOTH DISEASE This is a disease where you have weakness in your feet and lower leg muscles This disease is one of most common inherited neurological disorders This disease compromises a group of disorders that affect peripheral nerves It affects approximately 1 in 2,500 people in the US SYMPTOMS Weakness in feet and lower leg muscles May result in foot deformities and frequently tripping and falling Your lower leg may take on an “inverted champagne bottle” from loss of muscle bulk Occurs in adolescent or early adulthood Progression of disease is gradual DIFFERENT TYPES CMT 1-an autosomal dominant disease from duplication of gene on chromosome 17 that carries info for producing the peripheral myelin protein 22 CMT 2-comes from abnormalties in the axon of the peripheral nerve cell rather than the myelin sheath CMT 3-severe demyelinating neuropathy that begins when you are a baby CMT 4-has several different subtypes of autosomal recessive demyelinating motor and sensory neuropathies CMT X-X-linked dominant disease and caused by point mutation in the connexin32 gene on X chromosome WHAT CAUSES THE DISEASE? CMT is caused by mutations in genes that produce proteins involved in the structure and function of peripheral nerve axon or the myelin sheath. HOW DO THEY DIAGNOSE CMT? First you go over patient history Family history Neurological exam Get asked symptoms If CMT suspected Then you will get electro diagnostic tests Then it will tell you if you have it and then you may get extra tests to find out which kind you have HOW IS CMT TREATED? There is no cure for CMT But you can have physical and occupational therapy You can even have braces and other devices Even orthopedic surgery may help Stretching may prevent some pain WORKS CITED www.goldbamboo.com/topic-t2706-a1-6Charcot-Ma... www.radio.cz/en/article/54010 www.mdnsw.org.au/old/FactsSheetsCMT.htm http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_mari e_tooth.htm http://www.cmtfoundation.org/Research/CT-2Agene.html http://medicalnlp.com/html/testimonials.html http://blog.willamette.edu/stories/gallery.php?id=2006-128-1
